S49N (p.Ser49Asn) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
S49N (p.Ser49Asn) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- NCI-TCGA Cosmic COSV5559
- cosmic curated COSV55592
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- MetaLR 0.11
- MetaSVM -1.03
- CADD 4.86
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available